Novel sequence variants in the human xylosyltransferase I gene and their role in diabetic nephropathy

Diabetic Medicine

Volumn 23, Issue 6, 2006, Pages 681-684

  Bahr, C ^a   Schon S ^a   Kuhn, J ^a   Groop, P H ^b,c   Parkkonen, M ^b,c   Wessman, M ^b,c   Kleesiek, K ^a   Gotting C ^a  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^c HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

Denaturing high performance liquid chromatography; Diabetic nephropathy; Sequence variants; Type 1 diabetes; Xylosyltransferase I

Indexed keywords

PROTEOHEPARAN SULFATE; TRANSFERASE; UNCLASSIFIED DRUG; XYLOSYLTRANSFERASE 1;

ADULT; ARTICLE; BODY MASS; CAUCASIAN; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DIABETES MELLITUS; DIABETIC NEPHROPATHY; EXON; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GLOMERULUS BASEMENT MEMBRANE; HUMAN; MAJOR CLINICAL STUDY; MALE; STATISTICAL SIGNIFICANCE; XYLT1 GENE;

ADULT; CASE-CONTROL STUDIES; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DIABETES MELLITUS, TYPE 1; DIABETIC NEPHROPATHIES; FEMALE; GENE FREQUENCY; HUMANS; LOGISTIC MODELS; MALE; MIDDLE AGED; PENTOSYLTRANSFERASES; POLYMORPHISM, GENETIC;

EID: 33744823039     PISSN: 07423071     EISSN: 14645491     Source Type: Journal    
DOI: 10.1111/j.1464-5491.2006.01899.x     Document Type: Article

References (18)

1. Vora J. Diabetic nephropathy: detection and treatment of renal disease in patients with diabetes. Adv Stud Med 2004 4 : S1022 S1029.
2. Truschnig-Wilders M Boehm BO März W. Laboratory diagnostics in patients with diabetes mellitus. J Lab Med 2004 28 : 334 345.
3. Raats CJI van den Born J Berden JHM. Glomerular heparan sulfate alterations: mechanisms and relevance for proteinuria. Kidney Int 2000 57 : 385 400.
4. Groffen AJA Veerkamp JH Monnens LAH van den Heuvel LPWJ. Recent insights into the structure and functions of heparan sulfate proteoglycans in the human glomerular basement membrane. Nephrol Dial Transplant 1999 14 : 2119 2129.
5. van den Born J van Kraats AA Bakker MAH Assmann KJM van den Heuvel LPWJ Veerkamp JH Berden JHM. Selective proteinuria in diabetic nephropathy in the rat is associated with a relative decrease in glomerular basement membrane heparan sulfate. Diabetologia 1995 38 : 161 172.
6. Conde-Knape K. Heparan sulfate proteoglycans in experimental models of diabetes: a role for perlecan in diabetes complications. Diabetes Metab Res Rev 2001 17 : 412 421.
7. Gross JL de Azevedo MJ Silveiro SP Canani LH Caramori ML Zelmanovitz T. Diabetic nephropathy. Diagnosis, prevention, and treatment. Diabetes Care 2005 28 : 164 176.
8. Brinkmann T Weilke C Kleesiek K. Recognition of acceptor proteins by UDP-D-xylose proteoglycan core protein β-D-xylosyltransferase. J Biol Chem 1997 272 : 11171 11175.
9. Kuhn J Götting C Schnölzer M Kempf T Brinkmann T Kleesiek K. First isolation of human UDP-D-xylose: proteoglycan core protein β-D-xylosyltransferase secreted from cultured JAR choriocarcinoma cells. J Biol Chem 2001 276 : 4940 4947.
10. Götting C Kuhn J Zahn R Brinkmann T Kleesiek K. Molecular cloning and expression of human UDP-D-xylose: proteoglycan core protein β-D-xylosyltransferase and its first isoform XT-II. J Mol Biol 2000 304 : 517 528.
11. Thorp ML. Diabetic nephropathy: common questions. Am Fam Physician 2005 72 : 96 9 (Review).
12. Schön S Prante C Müller S Schöttler M Tarnow L Kuhn J et al. Impact of polymorphisms in the genes encoding xylosyltransferase I and a homologue in type 1 diabetic patients with and without nephropathy. Kidney Int 2005 68 : 1483 1490.
13. Riva A Kohane IS. SNPper: retrieval and analysis of human SNPs. Bioinformatics 2002 18 : 1681 1685.
14. den Dunnen JT Antonarakis E. Nomenclature for the description of human sequence variations. Hum Genet 2001 109 : 121 124.
15. Wilson IBH. The never-ending story of peptide O-xylosyltransferase. Cell Mol Life Sci 2004 61 : 794 809 (Review).
16. Hammar E Parnaud G Bosco D Perriraz N Maedler K Donath M et al. Extracellular matrix protects pancreatic β-cells against apoptosis. Diabetes 2004 53 : 2034 2041.
17. Foley TP Nissley SP Stevens RL King GL Hascall VC Humbel RE et al. Demonstration of receptors for insulin and insulin-like growth factors on swarm rat chondrosarcoma chondrocytes. J Biol Chem 1982 257 : 663 669.
18. Otsu K Geary ES Stevens RL. Aberrant regulation of the metabolism of the insulin receptor in swarm rat chondrosarcome chondrocytes. Biochem J 1988 254 : 203 209.